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, 6 (1), 126-8

A Novel Frameshift Mutation of the ALDOB Gene in a Korean Girl Presenting With Recurrent Hepatitis Diagnosed as Hereditary Fructose Intolerance

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A Novel Frameshift Mutation of the ALDOB Gene in a Korean Girl Presenting With Recurrent Hepatitis Diagnosed as Hereditary Fructose Intolerance

Hae-Won Choi et al. Gut Liver.

Abstract

Hereditary fructose intolerance is an autosomal recessive disorder that is caused by a deficiency in fructose-1-phosphate aldolase (Aldolase B). Children can present with hypoglycemia, jaundice, elevated liver enzymes and hepatomegaly after intake of dietary fructose. Long-term intake of fructose in undiagnosed patients can result in hepatic failure or renal failure. We experienced a case of hereditary fructose intolerance presenting as recurrent hepatitis-like episodes. Detailed evaluation of her dietary habits revealed her avoidance of sweetened foods and fruits. Genetic analysis of ALDOB revealed that she is a homozygote for a novel frameshifting mutation c[758_759insT]+[758_759insT] (p.[val25 3fsX24]+[val253fsX24]). This report is the first of a Korean patient diagnosed with hereditary fructose intolerance using only molecular testing without undergoing intravenous fructose tolerance test or enzyme assay.

Keywords: Aldolase B; Fructose intolerance; Gene; Hepatitis; Hypoglycemia.

Conflict of interest statement

No potential conflict of interest relevant to this article was reported.

Figures

Fig. 1
Fig. 1
Microscopic features observed on H&Estaining (A) and Masson's trichome staining (B) of a liver biopsy sample. Moderate macrovesicular fatty changes (A, ×200) with periportal and perivenular fibrosis (B, ×40) suggestive of metabolic liver disease.
Fig. 2
Fig. 2
Genomic DNA analysis of the ALDOB that the patient carries. A homozygous mutation, c.[758_759insT]+[758_759insT](p.[val253fsX24]+[val253fsX24]).

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